CC to TT mutation in the mitochondrial DNA of normal skin: relationship to ultraviolet light exposure

Mutation Research - Genetic Toxicology and Environmental Mutagenesis

Volumn 468, Issue 1, 2000, Pages 35-43

  Kawasaki, Kentaro ^a   Suzuki, Takayoshi ^a   Ueda, Masato ^b   Ichihashi, Masamitsu ^b   Reguer, Gaëlle ^a   Yamasaki, Hiroshi ^a  

^a INTERNATIONAL AGENCY FOR RESEARCH ON CANCER   (France)

^b KOBE UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Allele specific PCR; Genotypic selection; Skin cancer; Tandem mutation

Indexed keywords

MITOCHONDRIAL DNA; PROTEIN P53;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; MALE; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY; SKIN CANCER; TANDEM REPEAT; ULTRAVIOLET RADIATION;

AGED; AGED, 80 AND OVER; ALLELES; DNA, MITOCHONDRIAL; DOSE-RESPONSE RELATIONSHIP, RADIATION; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; PYRIMIDINE DIMERS; SKIN; SKIN NEOPLASMS; ULTRAVIOLET RAYS;

EID: 0034702352     PISSN: 13835718     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1383-5718(00)00038-3     Document Type: Article

References (41)

1. Gloster H.M. Jr., Brodland D.G. Epidemiology of sun exposure and skin cancer. Cancer Surv. 26:1996;133-153.
2. Young A.R. Cumulative effects of ultraviolet radiation on the skin: cancer and photoaging. Semin. Dermatol. 9:1990;25-31.
3. Kligman L.H., Kligman A.M. The nature of photoaging: its prevention and repair. Photodermatology. 3:1986;215-217.
4. Kripke M.L. Immunological effects of ultraviolet radiation. J. Dermatol. 18:1991;429-433.
5. Gilchrest B.A. Actinic injury. Annu. Rev. Med. 41:1990;199-210.
6. Urbach F. Welcome and introduction: evidence and epidemiology of ultraviolet-induced cancers in man. Natl. Cancer Inst. Monogr. 1978;5-10.
7. Scotto J., Fears T.R Skin cancer epidemiology: research needs. Natl. Cancer Inst. Monogr. 1978;169-177.
8. Brash D.E., Rudolph J.A., Simon J.A., Lin A., McKenna G.J., Baden H.P., Halperin A.J., Ponten J. A role for sunlight in skin cancer: UV-induced p53 mutations in squamous cell carcinoma. Proc. Natl. Acad. Sci. U. S. A. 88:1991;10124-10128.
9. Rady P., Scinicariello F., Wagner R.F., Tyring S.K. p53 mutations in basal cell carcinomas. Cancer Res. 52:1992;3804-3806.
10. Ziegler A., Leffell D.J., Kunala S.et al. Mutation hotspots due to sunlight in the p53 gene of nonmelanoma skin cancers. Proc. Natl. Acad. Sci. U. S. A. 90:1993;4216-4220.
11. IARC monographs on the evaluation of carcinogenic risks to humans. Solar and ultraviolet radiation. IARC Monogr. Eval. Carcinog. Risk Hum. 55:1992;1-316.
12. Kricker A., Armstrong B.K., English D.R. Sun exposure and non-melanocytic skin cancer. Cancer Causes Control. 5:1994;367-392.
13. Kricker A., Armstrong B.K., English D.R., Heenan P.J. A dose-response curve for sun exposure and basal cell carcinoma. Int. J. Cancer. 60:1995;482-488.
14. Gallagher R.P., Hill G.B., Bajdik C.D., Coldman A.J., Fincham S., McLean D.I., Threlfall W.J. Sunlight exposure, pigmentation factors, and risk of nonmelanocytic skin cancer: II. Squamous cell carcinoma. Arch. Dermatol. 131:1995;164-169.
15. Armstrong B.K., Kricker A. Epidemiology of sun exposure and skin cancer. Cancer Surv. 26:1996;133-153.
16. Tornaletti S., Pfeifer G.P. UV damage and repair mechanisms in mammalian cells. BioEssays. 18:1996;221-228.
17. Dumaz N., Drougard C., Sarasin A., Daya-Grosjean L. Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA-repair-deficient xeroderma pigmentosum patients. Proc. Natl. Acad. Sci. U. S. A. 90:1993;10529-10533.
18. Sato M., Nishigori C., Zghal M., Yagi T., Takebe H. Ultraviolet-specific mutations in p53 gene in skin tumors in xeroderma pigmentosum patients. Cancer Res. 53:1993;2944-2946.
19. Ziegler A., Jonason A.S., Leffell D.J., Simon J.A., Sharma H.W., Kimmelman J., Remington L., Jacks T., Brash D.E. Sunburn and p53 in the onset of skin cancer. Nature. 372:1994;773-776.
20. Ouhtit A., Nakazawa H., Armstrong B.K., Kricker A., Tan E., Yamasaki H., English D.R. UV-radiation-specific p53 mutation frequency in normal skin as a predictor of risk of basal cell carcinoma. J. Natl. Cancer. Inst. 90:1998;523-531.
21. Kraemer K.H. Sunlight and skin cancer: another link revealed. Proc. Natl. Acad. Sci. U. S. A. 94:1997;11-14.
22. Jonason A.S., Kunala S., Price G.J.et al. Frequent clones of p53-mutated keratinocytes in normal human skin. Proc. Natl. Acad. Sci. U. S. A. 93:1996;14025-14029.
23. Nelson M.A., Einspahr J.G., Alberts D.S. Analysis of the p53 gene in human precancerous actinic keratosis lesions and squamous cell cancers. Cancer Lett. 85:1994;23-29.
24. Taguchi M., Watanabe S., Yashima K., Murakami Y., Sekiya T., Ikeda S. Aberrations of the tumor suppressor p53 gene and p53 protein in solar keratosis in human skin. J. Invest. Dermatol. 103:1994;500-503.
25. Urano Y., Asano T., Yoshimoto K. Frequent p53 accumulation in the chronically sun-exposed epidermis and clonal expansion of p53 mutant cells in the epidermis adjacent to basal cell carcinoma. J. Invest. Dermatol. 104:1995;928-932.
26. Nakazawa H., English D., Randell P.L., Nakazawa K., Martel N., Armstrong B.K., Yamasaki H. UV and skin cancer: specific p53 gene mutation in normal skin as a biologically relevant exposure measurement. Proc. Natl. Acad. Sci. U. S. A. 91:1994;360-364.
27. Yamasaki H., Mesnil M., Nakazawa H. Interaction and distinction of genotoxic and non-genotoxic events in carcinogenesis. Toxicol. Lett. 64-65:1992;597-604.
28. Marcelino L.A., Thilly W.G. Mitochondrial mutagenesis in human cells and tissues. Mutat. Res. 433:1999;177-203.
29. Attimonelli M., Calo D., Cooper J.M.et al. The mitBASE human dataset structure. Nucleic Acids Res. 26:1998;116-119.
30. Tomkinson A.E., Bonk R.T., Kim J., Bartfeld N., Linn S. Mammalian mitochondrial endonuclease activities specific for ultraviolet-irradiated DNA. Nucleic Acids Res. 18:1990;929-935.
31. Brown W.M., George M., Wilson A.C. Rapid evolution of animal mitochondrial DNA. Proc. Natl. Acad. Sci. U. S. A. 76:1979;1967-1971.
32. Cha R.S., Zarbl H., Keohavong P., Thilly W.G. Mismatch amplification mutation assay (MASA): application to the c-H-ras gene. PCR Methods Appl. 2:1992;12-20.
33. Parsons B.L., Heflich R.H. Genotypic selection methods for the direct analysis of point mutations. Mutat. Res. 387:1997;97-121.
34. Parsons B.L., Heflich R.H. Detection of basepair substitution mutation at a frequency of 1×10(-7) by combining two genotypic selection methods, MutEx enrichment and allele-specific competitive blocker PCR. Environ. Mol. Mutagen. 32:1998;200-211.
35. Hainaut P., Hernandez T., Robinson A., Rodriguez-Tome P., Flores T., Hollstein M., Harris C.C., Montesano R. IARC Database of p53 gene mutations in human tumors and cell lines: updated compilation, revised formats and new visualisation tools. Nucleic Acids Res. 26:1998;205-213.
36. Bodak N., Queille S., Avril M.F., Bouadjar B., Drougard C., Sarasin A., Daya-Grosjean L. High levels of patched gene mutations in basal-cell carcinomas from patients with xeroderma pigmentosum. Proc. Natl. Acad. Sci. U. S. A. 96:1999;5117-5122.
37. Moyer R., Briley D., Johnsen A., Stewart U., Shaw B.R. Echinomycin, a bis-intercalating agent, induces C->T mutations via cytosine deamination. Mutat. Res. 288:1993;291-300.
38. Wallace D.C. Diseases of the mitochondrial DNA. Annu. Rev. Biochem. 61:1992;1175-1212.
39. Berneburg M., Gattermann N., Stege H., Grewe M., Vogelsang K., Ruzicka T., Krutmann J. Chronically ultraviolet-exposed human skin shows a higher mutation frequency of mitochondrial DNA as compared to unexposed skin and the hematopoietic system. Photochem. Photobiol. 66:1997;271-275.
40. Birch-Machin M.A., Tindall M., Turner R., Haldane F., Rees J.L. Mitochondrial DNA deletions in human skin reflect photo- rather than chronologic aging. J. Invest. Dermatol. 110:1998;149-152.
41. Pascucci B., Versteegh A., van Hoffen A., van Zeeland A.A., Mullenders L.H., Dogliotti E. DNA repair of UV photoproducts and mutagenesis in human mitochondrial DNA. J. Mol. Biol. 273:1997;417-427.